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Inicio Medicina Clínica (English Edition) Pulmonary arterial hypertension associated to systemic erythematosus: Molecular ...
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Vol. 151. Issue 3.
Pages 111-115 (August 2018)
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Vol. 151. Issue 3.
Pages 111-115 (August 2018)
Clinical report
DOI: 10.1016/j.medcle.2018.05.040
Pulmonary arterial hypertension associated to systemic erythematosus: Molecular characterization of 3 cases
Hipertensión arterial pulmonar asociada a lupus eritematoso sistémico: caracterización molecular de 3 casos
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Guillermo Pousadaa,b,c, Mauro Lago-Docampoa, Adolfo Baloirad, Diana Valverdea,b,
Corresponding author
dianaval@uvigo.es

Corresponding author.
a Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain
b Instituto de Investigación Biomédica de Ourense-Pontevedra-Vigo (IIS Galicia Sur), Pontevedra, Spain
c Centro de Investigaciones Biomédicas (CINBIO) (Centro Singular de Investigación de Galicia), Universidad de Vigo, Pontevedra, Spain
d Servicio de Neumología, Complexo Hospitalario Universitario de Pontevedra, Pontevedra, Spain
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Table 1. Clinical and haemodynamic characteristics of patients with PAH associated with lupus included in this analysis.
Table 2. Molecular characterisation of the main genes and genetic modifiers of patients with lupus-associated PAH included in this analysis.
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Abstract
Background and objective

Pulmonary arterial hypertension associated with systemic lupus erythematosus (PAH-SLE) is a rare disease with a low incidence rate. In this study, PAH related genes and genetic modifiers were characterised molecularly in patients with PAH-SLE.

Patients and methods

Three patients diagnosed with PAH-SLE and 100 control individuals were analysed after signing an informed consent.

Results

Two out of the three analysed patients with PAH-SLE were carriers of pathogenic mutations in the genes BMPR2 and ENG. After an in silico analysis, pathogenic mutations were searched for in control individuals and different databases, with negative results, and they were thus functionally analysed. The third patients only showed polymorphisms in the genes BMPR2, ACVRL1 and ENG. Several genetic variants and genetic modifiers were identified in the three analysed patients. These modifiers, along with the pathogenic mutations, could lead to a more severe clinical course in patients with PAH.

Conclusions

We present, for the first time, patients with PAH-SLE carrying pathogenic mutations in the main genes related to PAH and alterations in the genetic modifiers.

Keywords:
Pulmonary arterial hypertension
Systemic lupus erythematosus
Mutations
Genetic modifiers
Autoimmunity
Resumen
Introducción y objetivos

La hipertensión arterial pulmonar asociada a lupus eritematoso sistémico (HAP-LES) es una rara enfermedad de baja incidencia. En este estudio se caracterizaron molecularmente los genes y modificadores genéticos relacionados con la HAP en pacientes con HAP-LES.

Pacientes y métodos

Se analizaron 3 pacientes diagnosticados de HAP-LES y 100 individuos control, previa firma del consentimiento informado.

Resultados

Dos de las 3 pacientes con HAP-LES analizadas resultaron ser portadoras de mutaciones patogénicas en los genes BMPR2 y ENG. Tras el análisis in silico, las mutaciones patogénicas se buscaron en individuos control y en diferentes bases de datos, siendo este resultado negativo, por lo que fueron analizadas funcionalmente. La tercera paciente tan solo presentó polimorfismos en los genes BMPR2, ACVRL1 y ENG. Se identificaron diversas variaciones en los modificadores genéticos en las 3 pacientes analizadas. La presencia de estos modificadores, junto con las mutaciones patogénicas, podrían dar lugar a un fenotipo más severo en los pacientes con HAP.

Conclusiones

Presentamos, por primera vez, pacientes con HAP-LES portadores de mutaciones patogénicas en los principales genes relacionados con la HAP y con alteraciones en los modificadores genéticos.

Palabras clave:
Hipertensión arterial pulmonar
Lupus eritematoso sistémico
Mutaciones
Modificadores genéticos
Autoinmunidad

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